Zobrazeno 1 - 10 of 34 pro vyhledávání: '"Sjc, Stevens"'
2
Akademický článek
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Autor: Janssen AEJ; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Koeck RM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Essers R; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Cao P; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., van Dijk W; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Drüsedau M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Meekels J; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Yaldiz B; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., van de Vorst M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., de Koning B; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Sun SM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Heijligers M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., de Munnik SA; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., van Uum CMJ; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Achten J; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Hamers L; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Naghdi M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Faculty of Psychology and Neuroscience, Section Applied Social Psychology, Maastricht University, Maastricht, The Netherlands., Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., van Golde RJT; Department of Obstetrics and Gynaecology, GROW Research Institute for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., de Wert G; Department of Health, Ethics and Society, GROW Research Institute for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; CAPHRI Research Institute for Public Health and Primary Care, Maastricht University, Maastricht, The Netherlands., Dreesen JCFM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., de Die-Smulders C; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Coonen E; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Obstetrics and Gynaecology, GROW Research Institute for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Brunner HG; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Paulussen ADC; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Zamani Esteki M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands. masoud.zamaniesteki@mumc.nl.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands. masoud.zamaniesteki@mumc.nl.; Division of Obstetrics and Gynaecology, Department of Clinical Science, Intervention & Technology (CLINTEC), Karolinska Institutet, Stockholm, Sweden. masoud.zamaniesteki@mumc.nl.
Publikováno v: Nature communications [Nat Commun] 2024 Sep 02; Vol. 15 (1), pp. 7164. Date of Electronic Publication: 2024 Sep 02.
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3
Akademický článek
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Autor: Szakszon K; Faculty of Medicine Institute of Pediatrics, University of Debrecen, Debrecen, Hungary szakszon.katalin@med.unideb.hu.; Rare Congenital Malformations and Rare intellectual Disability (ERN ITHACA), European Reference Networks, Debrecen, Hungary., Lourenco CM; Neurogenetics Unit - Inborn Errors of Metabolism Clinics, National Reference Center for Rare Diseases, Medicine School of Sao Jose do Rio Preto, Sao Jose do Rio Preto, Brazil., Callewaert BL; Center for Medical Genetics, University Hospital Ghent, Gent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Geneviève D; Montpellier University, Inserm Unit U1183, Reference Center for Rare Disease: Developmental Anomalies. Clinical Genetic Unit, CHU Montpellier, Montpellier, France.; Rare Congenital Malformations and Rare Intellectual Disability (ERN ITHACA), European Reference Networks, Montpellier, France., Rouxel F; Génétique Clinique, Départment de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU Montpellier, Montpellier University, Centre de Référence Anomalies du Développement SOOR, Montpellier, France., Morin D; Rare Kidney Disease Center, Montpellier University Hospital, Montpellier, France., Denommé-Pichon AS; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France., Vitobello A; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France., Patterson WG; Greenwood Genetic Center Foundation, Greenwood, South Carolina, USA., Louie R; Greenwood Genetic Center Inc, Greenwood, South Carolina, USA., Pinto E Vairo F; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Klee E; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Kaiwar C; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Gavrilova RH; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Agre KE; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Jacquemont S; Sainte-Justine Research Center, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada.; Department of Medical Genetics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada., Khadijé J; Department of Medical Genetics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada., Giltay J; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., van Gassen K; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Merő G; Faculty of Medicine Institute of Pediatrics, University of Debrecen, Debrecen, Hungary., Gerkes E; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., Van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Rinne T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Brunner HG; Klinische Genetica, Maastricht University Medical Centre, Maastricht, The Netherlands., Caluseriu O; Medical Genetics Clinic, University of Alberta, Edmonton, Alberta, Canada., Grasshoff U; Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany., Kehrer M; Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany., Khelifa MM; Department of Human Genetics, Medical College Hannover, Hannover, Germany., Bergmann AK; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Rare Congenital Malformations and Rare intellectual Disability (ERN ITHACA), European Reference Networks, Barcelona, Spain., Martorell AC; Pediatric Endocrinology Department, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Endocrinology Group, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Vall d'Hebron Research Institute, Barcelona, Spain., Ramachandrappa S; Clinical Genetics Department, Guy's & St Thomas' NHS Foundation Trust, London, UK., Sawyer LB; Department of Medical Genetics, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Fasel P; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland., Braun D; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland., Isis A; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland., Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland., McNiven V; University Health Network and Mount Sinai Hospital, Fred A Litwin Family Centre in Genetic Medicine, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Chitayat D; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, Ontario, Canada., Ahmed SA; University Health Network and Mount Sinai Hospital, Fred A Litwin Family Centre in Genetic Medicine, Toronto, Ontario, Canada., Brennenstuhl H; Insittute of Human Genetics, Heidelberg University, Heidelberg, Germany., Schwaibolf EM; Insittute of Human Genetics, Heidelberg University, Heidelberg, Germany., Battisti G; Centre de Génétique Humaine, Institut de Pathologie et de Genetique asbl, Gosselies, Belgium., Parmentier B; Centre de Génétique Humaine, Institut de Pathologie et de Genetique asbl, Gosselies, Belgium., Stevens SJC; Klinische Genetica, Maastricht University Medical Center, Maastricht, The Netherlands.
Publikováno v: Journal of medical genetics [J Med Genet] 2024 Jan 19; Vol. 61 (2), pp. 132-141. Date of Electronic Publication: 2024 Jan 19.
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4
Akademický článek
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.
Autor: Essers R; Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW-Research Institute for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences (FHML), Maastricht University, Maastricht, The Netherlands., Lebedev IN; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Kurg A; Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia., Fonova EA; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW-Research Institute for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences (FHML), Maastricht University, Maastricht, The Netherlands., Koeck RM; Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW-Research Institute for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences (FHML), Maastricht University, Maastricht, The Netherlands., von Rango U; Department of Anatomy & Embryology, Faculty of Health, Medicine and Life Sciences (FHML), Maastricht University, Maastricht, The Netherlands., Brandts L; Department of Clinical Epidemiology and Medical Technology Assessment (KEMTA), Maastricht University Medical Center (MUMC+), Maastricht, The Netherlands., Deligiannis SP; Department of Obstetrics and Gynaecology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Obstetrics and Gynecology, University of Helsinki, Helsinki, Finland., Nikitina TV; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Sazhenova EA; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Tolmacheva EN; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Kashevarova AA; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Fedotov DA; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Demeneva VV; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Zhigalina DI; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Drozdov GV; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Al-Nasiry S; Department of Genetics and Cell Biology, GROW-Research Institute for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences (FHML), Maastricht University, Maastricht, The Netherlands.; Department of Obstetrics and Gynaecology, Maastricht University Medical Center (MUMC+), Maastricht, The Netherlands., Macville MVE; Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW-Research Institute for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences (FHML), Maastricht University, Maastricht, The Netherlands., van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW-Research Institute for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences (FHML), Maastricht University, Maastricht, The Netherlands., Dreesen J; Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), Maastricht, The Netherlands., Paulussen A; Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW-Research Institute for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences (FHML), Maastricht University, Maastricht, The Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Internal Medicine, Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, The Netherlands., Brunner HG; Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW-Research Institute for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences (FHML), Maastricht University, Maastricht, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Salumets A; Department of Obstetrics and Gynaecology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia. andres.salumets@ki.se.; Competence Center on Health Technologies, Tartu, Estonia. andres.salumets@ki.se.; Division of Obstetrics and Gynecology, Department of Clinical Science, Intervention & Technology (CLINTEC), Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden. andres.salumets@ki.se., Zamani Esteki M; Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), Maastricht, The Netherlands. masoud.zamaniesteki@mumc.nl.; Department of Genetics and Cell Biology, GROW-Research Institute for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences (FHML), Maastricht University, Maastricht, The Netherlands. masoud.zamaniesteki@mumc.nl.; Division of Obstetrics and Gynecology, Department of Clinical Science, Intervention & Technology (CLINTEC), Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden. masoud.zamaniesteki@mumc.nl.
Publikováno v: Nature medicine [Nat Med] 2023 Dec; Vol. 29 (12), pp. 3233-3242. Date of Electronic Publication: 2023 Nov 23.
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5
Akademický článek
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Autor: Olde Keizer RACM; Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Marouane A; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, Netherlands., Kerstjens-Frederikse WS; Department of Genetics, University Medical Center, University of Groningen, Groningen, Netherlands., Deden AC; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, Netherlands., Lichtenbelt KD; Department of Genetics, Utrecht University Medical Center, Utrecht, Netherlands., Jonckers T; Department of Pediatrics and Neonatology, Máxima Medical Center, Veldhoven, Netherlands., Vervoorn M; Department of Pediatrics and Neonatology, Máxima Medical Center, Veldhoven, Netherlands., Vreeburg M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands., Henneman L; Department of Human Genetics and Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, Vrije Universiteit, Amsterdam, Netherlands., de Vries LS; Department of Neonatology, University Medical Center Utrecht, Utrecht, Netherlands., Sinke RJ; Department of Genetics, University Medical Center, University of Groningen, Groningen, Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, Netherlands., Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands., Andriessen P; Department of Pediatrics, Máxima Medical Center, Veldhoven, Netherlands.; Department of Applied Physics, Eindhoven University of Technology, Eindhoven, Netherlands., van Lingen RA; Department of Neonatology, Isala, Zwolle, Netherlands., Nelen M; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, Netherlands., Scheffer H; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, Netherlands., Stemkens D; VSOP - National Patient Alliance for Rare and Genetic Diseases, Soest, Netherlands., Oosterwijk C; VSOP - National Patient Alliance for Rare and Genetic Diseases, Soest, Netherlands., van Amstel HKP; Department of Genetics, Utrecht University Medical Center, Utrecht, Netherlands., de Boode WP; Department of Neonatology, Radboud University Medical Center, Radboud Institute for Health Sciences, Amalia Children's Hospital, Nijmegen, Netherlands., van Zelst-Stams WAG; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, Netherlands. wendy.vanzelst-stams@radboudumc.nl., Frederix GWJ; Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.; Department of Genetics, Utrecht University Medical Center, Utrecht, Netherlands., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands. lisenka.vissers@radboudumc.nl.
Publikováno v: European journal of pediatrics [Eur J Pediatr] 2023 Jun; Vol. 182 (6), pp. 2683-2692. Date of Electronic Publication: 2023 Mar 31.
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6
Akademický článek
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Autor: Faas BHW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Westra D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Munnik SA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., van Rij M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Marcelis C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Joosten S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Krapels I; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Vernimmen V; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Heijligers M; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Rinne T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Smeekens SP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Stegmann SPA; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Macville M; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Sikkel E; Department of Obstetrics and Gynaecology, Radboud University Medical Center, Nijmegen, The Netherlands., Coumans A; Department of Obstetrics and Gynaecology, Maastricht University Medical Centre, Maastricht, The Netherlands., Wijnberger L; Department of Obstetrics and Gynaecology, Rijnstate Hospital, Arnhem, The Netherlands., Derks I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Lent-Albrechts J; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Hofste T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Timmermans R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van den End J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Feenstra I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Publikováno v: Prenatal diagnosis [Prenat Diagn] 2023 Apr; Vol. 43 (4), pp. 527-543. Date of Electronic Publication: 2023 Feb 05.
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7
Akademický článek
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Autor: Delanne J; Centre de référence « Déficiences intellectuelles de causes rares », Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France; UF Innovation en diagnostic génomique des maladies rares, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), Centre Hospitalier Universitaire de Dijon, Dijon, France; UMR-Inserm 1231 GAD team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, F-21000, Dijon, France. Electronic address: julian.delanne@chu-dijon.fr., Lecat M; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France., Blackburn PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA., Klee EW; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA; Department of Health Sciences Research, Mayo Clinic, Mayo Clinic, Rochester, MN, 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA., Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands., Stegmann S; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands., Stevens SJC; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands., Nava C; Assistance Publique-Hôpitaux de Paris, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France., Heron D; Assistance Publique-Hôpitaux de Paris, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France., Keren B; Assistance Publique-Hôpitaux de Paris, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France., Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, 21205, USA., Naidu S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, 21205, USA., Babovic-Vuksanovic D; Department of Medical Genetics, Mayo Clinic, Rochester, MN, 55905, USA., Herkert JC; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands., Torring PM; Department of Clinical Genetics, Odense University Hospital, Denmark., Kibæk M; H.C. Andersen Children Hospital, Odense University Hospital, Denmark., De Bie I; Division of Medical Genetics, McGill University Health Centre, Montreal, Canada., Pfundt R; Department of Clinical Genetics, Amsterdam University Medical Centers, Amsterdam, the Netherlands., Hendriks YMC; Department of Clinical Genetics, Amsterdam University Medical Centers, Amsterdam, the Netherlands., Ousager LB; Department of Clinical Genetics, Odense University Hospital, Denmark; Human Genetics, Institute of Clinical Research, University of Southern Denmark, Odense, Denmark., Bend R; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Warren H; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Skinner SA; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Lyons MJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Pöe C; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France; UF Innovation en diagnostic génomique des maladies rares, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), Centre Hospitalier Universitaire de Dijon, Dijon, France; UMR-Inserm 1231 GAD team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, F-21000, Dijon, France., Chevarin M; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France; UF Innovation en diagnostic génomique des maladies rares, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), Centre Hospitalier Universitaire de Dijon, Dijon, France; UMR-Inserm 1231 GAD team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, F-21000, Dijon, France., Jouan T; UF Innovation en diagnostic génomique des maladies rares, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), Centre Hospitalier Universitaire de Dijon, Dijon, France; UMR-Inserm 1231 GAD team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, F-21000, Dijon, France., Garde A; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France., Thomas Q; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France., Kuentz P; UMR-Inserm 1231 GAD team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, F-21000, Dijon, France., Tisserant E; 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Publikováno v: European journal of medical genetics [Eur J Med Genet] 2023 Jan; Vol. 66 (1), pp. 104670. Date of Electronic Publication: 2022 Nov 19.
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8
Akademický článek
Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.
Autor: van Dijk W; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands., Derks K; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands., Drüsedau M; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands., Meekels J; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands., Koeck R; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Essers R; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Dreesen J; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Coonen E; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.; Center for Reproductive Medicine, Maastricht University Medical Centre+, GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands., de Die-Smulders C; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Brunner HG; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Paulussen ADC; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Zamani Esteki M; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.
Publikováno v: Human reproduction (Oxford, England) [Hum Reprod] 2022 Oct 31; Vol. 37 (11), pp. 2700-2708.
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9
Akademický článek
Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study.
Autor: Heesterbeek CJ; Department of Medical Oncology, GROW School for Oncology and Reproduction, Maastricht University Medical Center, Maastricht, the Netherlands., Aukema SM; Department of Clinical Genetics, GROW School for Oncology and Reproduction, Maastricht University Medical Center, Maastricht, the Netherlands., Galjaard RH; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Boon EMJ; Department of Human Genetics, and Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Srebniak MI; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Bouman K; Department of Human Genetics, and Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Faas BHW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Govaerts LCP; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Lichtenbelt KD; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Maarle MC; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Prooyen Schuurman L; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; Department of Human Genetics, and Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., van Rij MC; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Schuring-Blom GH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Stevens SJC; Department of Clinical Genetics, GROW School for Oncology and Reproduction, Maastricht University Medical Center, Maastricht, the Netherlands., Tan-Sindhunata G; Department of Human Genetics, and Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Zamani Esteki M; Department of Clinical Genetics, GROW School for Oncology and Reproduction, Maastricht University Medical Center, Maastricht, the Netherlands.; Department of Public Health, Erasmus Medical Center, Rotterdam, the Netherlands., de Die-Smulders CEM; Department of Clinical Genetics, GROW School for Oncology and Reproduction, Maastricht University Medical Center, Maastricht, the Netherlands., Tjan-Heijnen VCG; Department of Medical Oncology, GROW School for Oncology and Reproduction, Maastricht University Medical Center, Maastricht, the Netherlands., Henneman L; Department of Human Genetics, and Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Sistermans EA; Department of Human Genetics, and Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Macville MVE; Department of Clinical Genetics, GROW School for Oncology and Reproduction, Maastricht University Medical Center, Maastricht, the Netherlands.
Publikováno v: Journal of clinical oncology : official journal of the American Society of Clinical Oncology [J Clin Oncol] 2022 Aug 01; Vol. 40 (22), pp. 2426-2435. Date of Electronic Publication: 2022 Apr 08.
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